Key result
Patient-derived LQT1 iPSC line with KCNQ1 p.Arg231Cys variant shows normal pluripotency for disease modeling.
The successful generation of an iPSC line from a patient with the KCNQ1 c.691C > T variant provides a valuable tool for modeling Long QT syndrome type 1 in vitro.
Should not yet change LQT1 practice; extends iPSC models for variant-specific research.
Long QT syndrome type 1 (LQT1), the most prevalent subtype, is attributed to variants in KCNQ1, and is characterized at the cell level by diminished slow delayed rectifier potassium current and disrupted cardiomyocyte repolarization. At the patient level, impaired ventricular repolarization prolongs the QT interval on the electrocardiogram and is associated with life-threatening arrhythmias, often precipitated by physical exertion. Here, an induced pluripotent stem cell line was reprogrammed from an individual carrying the KCNQ1 c.691C > T (p.Arg231Cys) variant with a family history of sudden death; the line demonstrates normal stem cell morphology and karyotype, differentiation capacity, and pluripotency, enabling disease modeling.
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Choi et al. (2026) studied Long QT syndrome type 1 (n=1). Induced pluripotent stem cell line reprogramming was evaluated on Stem cell morphology, karyotype, differentiation capacity, and pluripotency. An induced pluripotent stem cell line reprogrammed from a patient with Long QT syndrome type 1 carrying the KCNQ1 c.691C > T variant demonstrated normal morphology, karyotype, and pluripotency.
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